| Cell line name |
GM00798 |
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| Synonyms |
GM-798; GM 00798 |
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| Accession |
CVCL_V528 |
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| Resource Identification Initiative |
To cite this cell line use: GM00798 (RRID:CVCL_V528) |
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| Comments |
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620. |
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| Sequence variations |
- Mutation; HGNC; 5391; IDUA; Simple; p.Trp402Ter (c.1205G>A); ClinVar=VCV000011908; Zygosity=Homozygous (Coriell=GM00798).
|
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| Disease |
Hurler syndrome (NCIt: C61261)
Hurler syndrome (ORDO: Orphanet_93473) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Hierarchy |
Children:
|
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| Sex of cell |
Female |
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| Age at sampling |
1Y |
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| Category |
Finite cell line |
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| Publications | DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977) CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992) PubMed=8328452; PMCID=PMC1682364
Bach G., Moskowitz S.M., Tieu P.T., Matynia A., Neufeld E.F.
Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area.
Am. J. Hum. Genet. 53:330-338(1993) |
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| Cross-references |
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| Cell line collections (Providers) |
Coriell; GM00798
|
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| Cell line databases/resources |
CLO; CLO_0028843
|
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| Encyclopedic resources |
Wikidata; Q54836457
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| Entry history |
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| Entry creation | 16-Apr-2014 |
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| Last entry update | 30-Jan-2024 |
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| Version number | 17 |
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